面部畸形
医学
脑瘫
智力残疾
麻痹
癫痫
基因复制
儿科
表型
病理
遗传学
物理医学与康复
生物
精神科
基因
替代医学
作者
Aydan Değerli̇yurt,Serdar Ceylaner,Hi̇lal Özdağ
出处
期刊:PubMed
[National Institutes of Health]
日期:2012-01-01
卷期号:23 (2): 263-7
被引量:6
摘要
We report an 11year-old female with 7q11.23 microduplication detected by an array-CGH test performed because of her atypical facial appearance while being followed-up with diagnoses of epilepsy and cerebral palsy at the pediatric neurology department since she was 3 months old. We emphasize that the facial phenotype by itself should arise suspicion of the 7q11.23 duplication.
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